Publications
Found 3 results
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“Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome”, vol. 12. pp. 3407-3411, 2013.
, “Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients”, vol. 10, pp. 2664-2670, 2011.
, Allanson JE, Greenberg F and Smith AC (1999). The face of Smith-Magenis syndrome: a subjective and objective study. J. Med. Genet. 36: 394-397.
PMid:10353786 PMCid:1734375
Bi W, Saifi GM, Shaw CJ, Walz K, et al. (2004). Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum. Genet. 115: 515-524.
http://dx.doi.org/10.1007/s00439-004-1187-6
PMid:15565467
Campbell HD, Fountain S, Young IG, Claudianos C, et al. (1997). Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics 42: 46-54.
http://dx.doi.org/10.1006/geno.1997.4709
PMid:9177775
Chen KS, Gunaratne PH, Hoheisel JD, Young IG, et al. (1995). The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am. J. Hum. Genet. 56: 175-182.
PMid:7825574 PMCid:1801336
Chen KS, Manian P, Koeuth T, Potocki L, et al. (1997). Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17: 154-163.
http://dx.doi.org/10.1038/ng1097-154
PMid:9326934
de Almeida JC, Reis DF and Martins RR (1989). Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example. Ann. Genet. 32: 184-186.
PMid:2817780
Elsea SH and Girirajan S (2008). Smith-Magenis syndrome. Eur. J. Hum. Genet. 16: 412-421.
http://dx.doi.org/10.1038/sj.ejhg.5202009
PMid:18231123
Girirajan S, Truong HT, Blanchard CL and Elsea SH (2009). A functional network module for Smith-Magenis syndrome. Clin. Genet. 75: 364-374.
http://dx.doi.org/10.1111/j.1399-0004.2008.01135.x
PMid:19236431
Greenberg F, Guzzetta V, Montes dO-L, Magenis RE, et al. (1991). Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49: 1207-1218.
PMid:1746552 PMCid:1686451
Greenberg F, Lewis RA, Potocki L, Glaze D, et al. (1996). Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62: 247-254.
http://dx.doi.org/10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
Llerena JR, Juan C and Almeida JCC (1998). Cytogenetic and molecular contributions to the study of mental retardation. Genet. Mol. Biol. 21: 273-279.
http://dx.doi.org/10.1590/S1415-47571998000200018
Potocki L, Shaw CJ, Stankiewicz P and Lupski JR (2003). Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet. Med. 5: 430-434.
http://dx.doi.org/10.1097/01.GIM.0000095625.14160.AB
PMid:14614393
Salman M, Jhanwar SC and Ostrer H (2004). Will the new cytogenetics replace the old cytogenetics? Clin. Genet. 66: 265-275.
http://dx.doi.org/10.1111/j.1399-0004.2004.00316.x
PMid:15355426
Smith AC, Boyd K, Elsea SH, Finucane BM, et al. (2010). Smith-Magenis Syndrome. In: GeneReviews (Pagon RA, Bird TC, Dolan CR and Stephens K, eds.). University of Washington, Washington. Available at [http://www.ncbi.nlm.nih.gov/books/NBK1310/]. Accessed February 2, 2010.
Vlangos CN, Yim DK and Elsea SH (2003). Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol. Genet. Metab. 79: 134-141.
http://dx.doi.org/10.1016/S1096-7192(03)00048-9
Yunis JJ (1976). High resolution of human chromosomes. Science 191: 1268-1270.
http://dx.doi.org/10.1126/science.1257746
PMid:1257746
“Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report”, vol. 8. pp. 1133-1138, 2009.
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